Canonical Allele Identifier: CA2739274035

Gene: FH

Linked Data

• ClinVar Variation Id: 2920493
• ClinVar RCV Id: RCV003736318

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502515del , CM000663.2:g.241502515del	GRCh38
NC_000001.10:g.241665815del , CM000663.1:g.241665815del	GRCh37
NC_000001.9:g.239732438del	NCBI36
NG_012338.1:g.22243del , LRG_504:g.22243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1670del
ENST00000682162.1:c.1196del	ENSP00000508203.1:n.1196del
ENST00000682567.1:n.2715del
ENST00000683521.1:c.1167del	ENSP00000506864.1:p.Asn390ThrfsTer16
ENST00000684161.1:n.2382del
ENST00000684483.1:c.*563del	ENSP00000507894.1:n.*563del
ENST00000366560.4:c.1167del MANE Select	ENSP00000355518.4:p.Asn390ThrfsTer16
ENST00000366560.3:c.1167del	ENSP00000355518.3:p.Asn390ThrfsTer16
NM_000143.3:c.1167del , LRG_504t1:c.1167del	NP_000134.2:p.Asn390ThrfsTer16
XM_011544132.1:c.939del	XP_011542434.1:p.Asn314ThrfsTer16
XM_011544132.2:c.939del	XP_011542434.1:p.Asn314ThrfsTer16
NM_000143.4:c.1167del MANE Select	NP_000134.2:p.Asn390ThrfsTer16